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Results 1 - 10 of 12 for Ceroid lipofuscinosis neuronal 1
  1. ... and may include treatment providers. Genetic Testing Registry: Ceroid lipofuscinosis neuronal 1 Genetic Testing Registry: Infantile neuronal ceroid lipofuscinosis You ...
  2. ... neuronal ceroid lipofuscinosis . How common is late-infantile neuronal ceroid lipofuscinosis? The prevalence of late-infantile NCL is unknown. Collectively, all forms of NCL affect an estimated 1 in 100,000 individuals worldwide. NCLs are more ...
  3. ... been described. What genes are related to congenital neuronal ceroid lipofuscinosis? Mutations in the CTSD gene cause congenital NCL. The CTSD gene provides instructions for making an enzyme called cathepsin D. Cathepsin D is one of a family of cathepsin proteins that act ...
  4. Genetics Home Reference: Northern epilepsy From the National Institutes of Health (National Library of Medicine)  
    ... with tasks of everyday living. Northern epilepsy is one of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs), which are also known as Batten disease. ...
  5. Genetics Home Reference: Juvenile Batten disease From the National Institutes of Health (National Library of Medicine)  
    ... their twenties or thirties. Juvenile Batten disease is one of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs). These disorders all affect the nervous system ...
  6. Genetics Home Reference: Kufs disease From the National Institutes of Health (National Library of Medicine)  
    ... years after the disorder begins. Kufs disease is one of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs), which are also known as Batten disease. ...
  7. ... Your child’s doctor has said your child has one of these rare “inherited metabolic diseases”: ... syndrome (mucopolysaccharidosis type 2) Sanfilippo syndrome ( ...
  8. National Institute of Neurological Disorders and Stroke (National Institute of Neurological Disorders and Stroke)  
    ... Neurological Sequelae Of Lupus Neuromyelitis Optica Neuromyotonia Neuronal Ceroid Lipofuscinosis Neuronal Migration Disorders Neuropathy - Hereditary Neurosarcoidosis Neurotoxicity Nevus Cavernosus ...
  9. Rare Diseases Clinical Research Network (Rare Diseases Clinical Research Network)  
    ... syndrome I-cell disease Krabbe disease Late Infantile Neuronal Ceroid Lipofuscinosis Maroteaux-Lamy syndrome Metachromatic leukodystrophy Morquio syndrome Mucolipidosis ...
  10. Batten Disease From the National Institutes of Health (National Institute of Neurological Disorders and Stroke) - Short Summary  
    NINDS Batten Disease Information Page Synonym(s): Neuronal Ceroid Lipofuscinosis Condensed from Batten Disease Fact Sheet Table of Contents (click to jump to sections) What is Batten Disease? Is there any treatment? ...
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